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• Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.

  Whyte MP, Mahuren JD, Fedde KN, Cole FS, McCabe ER, Coburn SP. Whyte MP, et al. J Clin Invest. 1988 Apr;81(4):1234-9. doi: 10.1172/JCI113440. J Clin Invest. 1988. PMID: 3350970 Free PMC article.
• Adult hypophosphatasia without apparent skeletal disease: "odontohypophosphatasia" in four heterozygote members of a family.

  Eberle F, Hartenfels S, Pralle H, Käbisch A. Eberle F, et al. Klin Wochenschr. 1984 Apr 16;62(8):371-6. doi: 10.1007/BF01716257. Klin Wochenschr. 1984. PMID: 6727276
• Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.

  Weiss MJ, Ray K, Fallon MD, Whyte MP, Fedde KN, Lafferty MA, Mulivor RA, Harris H. Weiss MJ, et al. Am J Hum Genet. 1989 May;44(5):686-94. Am J Hum Genet. 1989. PMID: 2705456 Free PMC article.
• Serum alkaline phosphatase in hypophosphatasia.

  Warshaw JB, Littlefield JW, Fishman WH, Inglis NR, Stolbach LL. Warshaw JB, et al. J Clin Invest. 1971 Oct;50(10):2137-42. doi: 10.1172/JCI106707. J Clin Invest. 1971. PMID: 5116205 Free PMC article.
• A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

  Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H. Weiss MJ, et al. Proc Natl Acad Sci U S A. 1988 Oct;85(20):7666-9. doi: 10.1073/pnas.85.20.7666. Proc Natl Acad Sci U S A. 1988. PMID: 3174660 Free PMC article.